C0024814[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435928	NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)	SIL1 (S455N)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689989	NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)	SIL1 (E448K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689990	NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)	SIL1 (G444C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435931	NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)	SIL1 (T421A)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 96084	NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)	SIL1 (G419S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433358	NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)	SIL1 (Q417*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 1028266	NM_022464.5(SIL1):c.1238G>A (p.Arg413His)	SIL1 (R413H)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2048439	NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)	SIL1 (R413C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435943	NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)	SIL1 (R411G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2058707	NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)	SIL1 (R394C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435946	NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)	SIL1 (E390Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1807100	NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)	SIL1 (E390K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 351075	NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)	SIL1 (A387V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1475664	NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)	SIL1 (V367I)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2110690	NM_022464.5(SIL1):c.1094G>A (p.Arg365His)	SIL1 (R365H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448381	NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)	SIL1 (Q363P)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +2 more	GUncertain significance
Select item 218488	NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)	SIL1 (E347K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1962242	NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)	SIL1 (A346P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 805454	NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)	SIL1 (A346T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1488958	NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)	SIL1 (M344T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 280106	NM_022464.5(SIL1):c.1030-9G>A	SIL1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 994490	NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)	SIL1 (T341M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 845699	NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)	SIL1 (A329T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 631958	NM_022464.5(SIL1):c.947dup (p.Arg317fs)	SIL1 (R317fs)	Duplication (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 1375828	NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)	SIL1 (R305W)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2435933	NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)	SIL1 (S256G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435938	NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)	SIL1 (A252T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 448385	NM_022464.5(SIL1):c.724G>A (p.Val242Met)	SIL1 (V242M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +2 more	GUncertain significance
Select item 2435930	NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)	SIL1 (N233D)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689988	NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)	SIL1 (F225S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435941	NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)	SIL1 (N218S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 662306	NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)	SIL1 (Q215R)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435932	NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)	SIL1 (Y212C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 809806	NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)	SIL1 (D208A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077103	NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)	SIL1 (R187W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435937	NM_022464.5(SIL1):c.550A>G (p.Ile184Val)	SIL1 (I184V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2271309	NM_022464.5(SIL1):c.526G>T (p.Val176Phe)	SIL1 (V176F)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2689987	NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)	SIL1 (R162C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435944	NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)	SIL1 (R159Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2408096	NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)	SIL1 (R159W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2435942	NM_022464.5(SIL1):c.432G>T (p.Met144Ile)	SIL1 (M144I)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2050647	NM_022464.5(SIL1):c.430A>G (p.Met144Val)	SIL1 (M144V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GConflicting classifications of pathogenicity
Select item 1993715	NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)	SIL1 (D130N)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2625	NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)	SIL1 (R111*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GPathogenic
Select item 994491	NM_022464.5(SIL1):c.310C>G (p.Leu104Val)	SIL1 (L104V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845827	NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)	SIL1 (A78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435940	NM_022464.5(SIL1):c.218C>T (p.Thr73Met)	SIL1 (T73M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2108680	NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)	SIL1 (P72L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435934	NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)	SIL1 (E65K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1432033	NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)	SIL1 (L62Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435936	NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)	SIL1 (E61K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1380766	NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)	SIL1 (E59K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 195373	NM_022464.5(SIL1):c.103C>G (p.Leu35Val)	SIL1 (L35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2310048	NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)	SIL1 (F28L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2036433	NM_022464.5(SIL1):c.31A>G (p.Met11Val)	SIL1 (M11V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689986	NM_022464.5(SIL1):c.-10-18951A>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GUncertain significance

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Items: 56